Results 21 to 30 of about 10,016 (182)

Skin fragility, hair abnormality and pachyonychia caused by DSP mutations:a case report and literature review

Pifu-xingbing zhenliaoxue zazhi, 2022
Objective To report a case of genodermatosis featured by skin fragility, alopecia and pachyonychia, and to identify the underlying genetic basis. Methods Clinical information was collected, and peripheral blood was obtained from the patient and his ...
Huijun WANG, Zhimiao LIN
doaj   +1 more source

Case report: Multiple biventricular aneurysms in arrhythmogenic cardiomyopathy

Frontiers in Cardiovascular Medicine, 2023
Arrhythmogenic cardiomyopathy (ACM) is a genetic disease characterized by fibro-fatty myocardial replacement and is clinically associated with malignant ventricular arrhythmias and sudden cardiac death.
Jiadong Lin, Zhijuang Lu, Mingqin Lin, Ying Wan, Jianfeng Li, Xinsheng Huang   +5 more
doaj   +1 more source

Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)

Cardiogenetics, 2022
Background: Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years.
Nosheen Reza, Alejandro de Feria, Jessica L. Chowns, Lily Hoffman-Andrews, Laura Vann, Jessica Kim, Amy Marzolf, Anjali Tiku Owens   +7 more
doaj   +1 more source

Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin [PDF]

, 1997
The cornified envelope is a layer of transglutaminase cross-linked protein that is assembled under the plasma membrane of keratinocytes in the outermost layers of the epidermis.
Argos, Arnemann, Bernier, Chou, Claros, Duden, Fey, Foisner, Foisner, Garnier, Green, Green, Guo, Haftek, Heid, Huber, Ishida-Yamamoto, Knight, Kouklis, Kozak, Kyte, Lupas, Ma, Maestrini, McLachlan, McLean, Ming, Nicholson, Nikolic, Ouyang, Parrish, Parry, Pasdar, Pasdar, Rice, Robinson, Ruhrberg, Ruhrberg, Sawamura, Sawamura, Schmidt, Sheu, Siefring, Simon, Stappenbeck, Stappenbeck, Stappenbeck, Steinert, Steinert, Sun, Surya, Svitkina, Tang, Uitto, Virata, Wiche, Wiche, Yang   +57 more
core   +2 more sources

Sudden cardiac death in young athletes: Literature review of molecular basis [PDF]

, 2020
Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue ...
Barbara Lombardo, Bruno Mirra, Cristina Mazzaccara, Ferdinando Barretta, Giulia Frisso, Olga Scudiero   +5 more
core   +1 more source

A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance NLRP3 Variant

Diagnostics, 2020
Mono-allelic dominant mutations in the desmoplakin gene (DSP) have been linked to known cardiac disorders, such as arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy.
Przemysław Chmielewski, Grażyna T. Truszkowska, Piotr Kukla, Joanna Zakrzewska-Koperska, Mateusz Śpiewak, Małgorzata Stępień-Wojno, Maria Bilińska, Anna Lutyńska, Rafał Płoski, Zofia T. Bilińska   +9 more
doaj   +1 more source

Intermediate filament–membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength [PDF]

, 2002
By tethering intermediate filaments (IFs) to sites of intercellular adhesion, desmosomes facilitate formation of a supercellular scaffold that imparts mechanical strength to a tissue.
Amargo, Evangeline V., Bannon, Leslie J., Chen, Xuejun, Godsel, Lisa M., Green, Kathleen J., Gumbiner, Barry M., Hudson, Tracie Y., Huen, Arthur C., Kelsell, David P., Leigh, Irene M., Mongiu, Anne K., Park, Jung K.   +11 more
core   +4 more sources

Expression of vimentin alters cell mechanics, cell-cell adhesion, and gene expression profiles suggesting the induction of a hybrid EMT in human mammary epithelial cells

Frontiers in Cell and Developmental Biology, 2022
Vimentin is a Type III intermediate filament (VIF) cytoskeletal protein that regulates the mechanical and migratory behavior of cells. Its expression is considered to be a marker for the epithelial to mesenchymal transition (EMT) that takes place in ...
Suganya Sivagurunathan, Amir Vahabikashi, Haiqian Yang, Jun Zhang, Jun Zhang, Kelly Vazquez, Kelly Vazquez, Dhivyaa Rajasundaram, Yuliya Politanska, Hiam Abdala-Valencia, Jacob Notbohm, Jacob Notbohm, Jacob Notbohm, Ming Guo, Stephen A. Adam, Robert D. Goldman   +15 more
doaj   +1 more source

Differentiation-dependent glycosylation of cells in squamous cell epithelia detected by a mammalian lectin [PDF]

, 2002
The squamous stratified epithelia contain a proliferative (harboring mitotic activity) and a differentiating compartment. Due to the potential of protein-carbohyd rate interactions to regulate cellular activities we introduced a mammalian lectin to cyto-
Dvorankova, Barbora, Gabius, Hans-Joachim, Hercogová, Jana, Holíkova, Zuzana, Kaltner, Herbert, Motlik, Jan, Plzák, Jan, Smetana, Karel   +7 more
core   +1 more source

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

BMC Medical Genetics, 2020
Background Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations in the titin (TTN) and lamin A/C (
Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo   +8 more
doaj   +1 more source